A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989434



Internal ID21898777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48786586..48787428hg38UCSC Ensembl
chr2:49013725..49014567hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38843
hg19843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536533
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989434
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer